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TRAPSの診断と新しい治療法の展開


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Title: TRAPSの診断と新しい治療法の展開
Other Titles: TNF receptor-associated periodic syndrome (TRAPS) in Japan: clinical characterization, pathogenesis, diagnostic criteria, and treatment
Authors: 井田, 弘明 / 江口, 勝美
Authors (alternative): Ida, Hiroaki / Eguchi, Katsumi
Issue Date: 28-Apr-2007
Publisher: 日本臨床免疫学会 / The Japan Society for Clinical Immunology
Citation: 日本臨床免疫学会会誌, 30(2), pp.90-100; 2007
Abstract: TNF-associated periodic syndrome (TRAPS)は,TNFが病態の中心と考えられる遺伝性周期性発熱症候群の一つである.TNFRSF1A(TNFR1)分子が細胞表面に留まり,TNFからの反応が持続するため,発熱などの様々なTRAPS症状が出現すると単純に考えられてきた.ところが,最近,TNFRSF1A分子の切断異常がみられない症例や突然変異のないTRAPS症例もあること,さらに孤発例も存在することが判明し,TRAPSとは大変heterogeneousな症候群であることがわかってきた.最近,細胞表面に発現されないTNFRSF1A分子が,TNFと無関係に細胞内で凝集し,NF-κBの活性化やアポトーシス誘導を生じていることも報告され,TRAPSの病因は混沌としている.本邦において,現在までTNFRSF1A遺伝子に突然変異をもつTRAPS症例は5家系15名と少ないが,突然変異のない孤発例は多い.本稿では,TRAPSについて自験例を提示しながら臨床像を紹介するとともに,TNFRSF1A分子の発現制御機構から考えられるTRAPSの病因,その病因とこれまで経験した症例から検討した診断のためのフローチャート,および,現存の治療法と私たちが試みた新しい治療法などを解説した. / TNF receptor-associated periodic syndrome (TRAPS) is an autosomal dominant inherited disease characterized by prolonged episodes of periodic fever and localized inflammation. The hypothetical pathogenesis of TRAPS is defective TNF receptor 1 (TNFRSF1A) shedding from cell membranes in response to a stimulus including TNFα. This mechanism has recently been shown to account for a minor population of TRAPS patients and other mechanisms are reported to explain the disease, such as resistance to apoptosis, TNFRSF1A internalization, or TNFRSF1A misfolding and aggregation, leading to NF-κB activation and apoptosis. Until now 15 TRAPS patients from 5 pedigree including 5 different mutations (C30R, C30Y, T61I, C70S, C70G) had been reported in Japan. There were many sporadic cases of TRAPS without TNFRSF1A mutation in our epidemiological study. In this issue, we described the clinical characterization, pathogenesis, diagnostic criteria, and treatment of TRAPS according to our case and literature.
Keywords: Autoinflammatory syndrome / TNF-associated periodic syndrome / TRAPS / TNF / TNFRSF1A
URI: http://hdl.handle.net/10069/24070
ISSN: 09114300
DOI: 10.2177/jsci.30.90
Rights: Copyright (c) 2007 日本臨床免疫学会
Type: Journal Article
Text Version: publisher
Appears in Collections:Articles in academic journal

Citable URI : http://hdl.handle.net/10069/24070

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